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DOID:4997 - Camurati-Engelmann disease
Disease Ontology Definition:An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Synonyms: Diaphyseal dysplasia, Engelman's disease, progressive diaphyseal dysplasia
Xenbase Genes
:
tgfb1
| MONDO:0007542 - Camurati-Engelmann disease |
| MIM:131300 - CAMURATI-ENGELMANN DISEASE; CAEND |
| MIM:606631 - CAMURATI-ENGELMANN DISEASE, TYPE 2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
monogenic disease (is_a),
osteosclerosis (is_a)